Full data view for gene TGFBR1

Information The variants shown are described using the NM_004612.2 transcript reference sequence.

136 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Remarks     

Allele     

Type     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Genetic origin     

Template     

Technique     

Remarks     

Disease     

Reference     

Gender     

Ethnic origin     

Age of death     

Cause of death     

Remarks     

Panel size     

Owner     
+/+ 9 c.1433A>G r.(?) p.(Asn478Ser) - Unknown Substitution g.101911508A>G - TGFBR1_000028 - Unknown DNA SEQ - LDS1 - F - - - - 1 Giada Tortora
+/+ 3 c.521G>T r.(?) p.(Gly174Val) - Unknown Substitution g.101894968G>T - TGFBR1_000056 - Unknown DNA SEQ - LDS1 Drera et al (2008) M - - - - 1 Giada Tortora
+/+ 4 c.598A>C r.(?) p.(Thr200Pro) - Unknown Substitution g.101900164A>C - TGFBR1_000068 - De novo DNA SEQ - LDS1 Kawazu et al (2010) M Asian 03m - - 1 Giada Tortora
./. 4 c.598A>C r.(?) p.(Thr200Pro) - Unknown Substitution g.101900164A>C - TGFBR1_000068 - De novo DNA SEQ - LDS1 Ozawa et al. (2014) M Asian (Japanese) 00y00m21d massive bleeding due to rupture right pulmonary artery - 1 Giada Tortora
+/+ 4 c.605C>T r.(?) p.(Ala202Val) - Unknown Substitution g.101900171C>T - TGFBR1_000006 - De novo DNA SEQ - LDS1 - F - - - - 1 Giada Tortora
./. 4 c.605C>T r.(?) p.(Ala202Val) - Paternal (inferred) Substitution g.101900171C>T - TGFBR1_000006 - Unknown DNA SEQ - LDS1 Poninska et al. (2016) M - - - Family TAAD118. Father died of TAAD 46y 1 Giada Tortora
./. 4 c.605C>T r.(?) p.(Ala202Val) - Maternal (confirmed) Substitution g.101900171C>T - TGFBR1_000006 - Germline (inherited) DNA SEQ - LDS1 Teixidó-Tura et al (2016) F - - - Family 1. II-2 3 Giada Tortora
./. 4 c.605C>T r.(?) p.(Ala202Val) - Unknown Substitution g.101900171C>T - TGFBR1_000006 - Unknown DNA SEQ - LDS1 Teixidó-Tura et al (2016) F - - - Family 1. Mother, I-2 1 Giada Tortora
./. 4 c.605C>T r.(?) p.(Ala202Val) - Maternal (confirmed) Substitution g.101900171C>T - TGFBR1_000006 - Germline (inherited) DNA SEQ - LDS1 Teixidó-Tura et al (2016) M - - - Family 1. Brother, II-1 1 Giada Tortora
+/+ 4 c.649G>A r.(?) p.(Gly217Arg) - Unknown Substitution g.101900215G>A - TGFBR1_000070 - De novo DNA SEQ - LDS1 Naviglio S et al (2014) F - - - - 1 Giada Tortora
+/+ 4 c.650G>T r.(?) p.(Gly217Val) - Unknown Substitution g.101900216G>T - TGFBR1_000002 - Unknown DNA SEQ - LDS1 - F Philippines - - - 1 Giada Tortora
+/+ 4 c.652G>A r.(?) p.(Glu218Lys) - Unknown Substitution g.101900218G>A - TGFBR1_000061 - Germline (inherited) DNA SEQ - LDS1 Stheneur et al (2008) M - - - - 1 Giada Tortora
+/+ 4 c.670T>G r.(?) p.(Trp224Gly) - Unknown Substitution g.101900236T>G - TGFBR1_000037 - Unknown DNA SEQ - LDS1 - M - - - - 1 Giada Tortora
./. 4 c.676G>A r.(?) p.(Gly226Arg) - Maternal (inferred) Substitution g.101900242G>A - TGFBR1_000078 - Unknown DNA SEQ - LDS1 Teixidó-Tura et al (2016) M - - - Family 2. Family history of sudden death due to TAAD in his mother (34y) and sister (12y) 1 Giada Tortora
+/+ 4 c.682_684delGAA r.(?) p.(Glu228del) - Unknown Deletion g.101900248_101900250delGAA - TGFBR1_000025 - De novo DNA SEQ - LDS1 - M - - - - 1 Giada Tortora
+/+ 4 c.682_684delGAA r.(?) p.(Glu228del) - Unknown Deletion g.101900248_101900250delGAA - TGFBR1_000036 - De novo DNA SEQ - LDS1 - M - - - - 1 Giada Tortora
+/+ 4 c.682_684delGAA r.(?) p.(Glu228del) - Unknown Deletion g.101900248_101900250delGAA - TGFBR1_000025 - De novo DNA SEQ - LDS1 Stheneur et al (2008) M - - - - 1 Giada Tortora
./. 4 c.683_685delAAG r.(?) p.(Glu228del) - Unknown Deletion g.101900249_101900251delAAG - TGFBR1_000077 - De novo DNA SEQ - LDS1 Luo at al. (2016) M - - - Patient number 264 1 Giada Tortora
+/+ 4 c.685G>C r.(?) p.(Val229Leu) - Unknown Substitution g.101900251G>C - TGFBR1_000007 - Unknown DNA SEQ - LDS1 - F - - - - 1 Giada Tortora
+/+ 4 c.689C>A r.(?) p.(Ala230Asp) - Unknown Substitution g.101900255C>A - TGFBR1_000026 - De novo DNA SEQ - LDS1 - F - - - - 1 Giada Tortora
+/+ 4 c.700T>C r.(?) p.(Phe234Leu) - Unknown Substitution g.101900266T>C - TGFBR1_000032 - De novo DNA SEQ - LDS1 - M - - - - 1 Giada Tortora
+/+ 4 c.702C>G r.(?) p.(Phe234Leu) - Unknown Substitution g.101900268C>G - TGFBR1_000035 - Unknown DNA SEQ - LDS1 - F - - - - 1 Giada Tortora
./. 4 c.702C>G r.(?) p.(Phe234Leu) - Unknown Substitution g.101900268C>G - TGFBR1_000035 - Unknown DNA SEQ - LDS1 Teixidó-Tura et al (2016) F - - - Family 3. Dad died at 50y of sudden death. 1 Giada Tortora
./. 4 c.702C>G r.(?) p.(Phe234Leu) - Paternal (confirmed) Substitution g.101900268C>G - TGFBR1_000035 - Germline (inherited) DNA SEQ - LDS1 Teixidó-Tura et al (2016) F - - - Family 4. Paternal family history of sudden death due to TAAD (uncle, 76y), to stroke (aunt 62y), to unknown cause (grandfather, 50y) 2 Giada Tortora
./. 4 c.702C>G r.(?) p.(Phe234Leu) - Unknown Substitution g.101900268C>G - TGFBR1_000035 - Unknown DNA SEQ - LDS1 Teixidó-Tura et al (2016) M - - - Family 4. Father, II-1 1 Giada Tortora
+/+ 4 c.722C>T r.(?) p.(Ser241Leu) - Unknown Substitution g.101900288C>T - TGFBR1_000010 - Unknown DNA SEQ - LDS1 - M - - - - 1 Giada Tortora
+/+ 4 c.722C>T r.(?) p.(Ser241Leu) - Unknown Substitution g.101900288C>T - TGFBR1_000015 - De novo DNA SEQ - LDS1 - M - - - - 1 Giada Tortora
+/+ 4 c.722C>T r.(?) p.(Ser241Leu) - Unknown Substitution g.101900288C>T - TGFBR1_000042 - De novo DNA SEQ - LDS1 - M Latino - - - 1 Giada Tortora
+/+ 4 c.722C>T r.(?) p.(Ser241Leu) - Unknown Substitution g.101900288C>T - TGFBR1_000046 - De novo DNA SEQ - LDS1 Adès et al (2006) M Caucasian-Thai 14y transient valvular failure causing cerebral hypoxia,seizure,and aspiration - 1 Giada Tortora
+/+ 4 c.722C>T r.(?) p.(Ser241Leu) - Unknown Substitution g.101900288C>T - TGFBR1_000047 - De novo DNA SEQ - LDS1 Adès et al (2006) M - - - - 1 Giada Tortora
+/+ 4 c.722C>T r.(?) p.(Ser241Leu) - Unknown Substitution g.101900288C>T - TGFBR1_000010 - Unknown DNA SEQ - LDS1 Mátyás et al (2006) - - - - - 1 Giada Tortora
+/+ 4 c.722C>T r.(?) p.(Ser241Leu) - Unknown Substitution g.101900288C>T - TGFBR1_000059 - De novo DNA SEQ - LDS1 Stheneur et al (2008) M - - - - 1 Giada Tortora
./. 4 c.722C>T r.(?) p.(Ser241Leu) - Unknown Substitution g.101900288C>T - TGFBR1_000010 - Unknown DNA SEQ - LDS1 Nishida et al. (2014) M - - - - 1 Giada Tortora
./. 4 c.722C>T r.(?) p.(Ser241Leu) - Unknown Substitution g.101900288C>T - TGFBR1_000010 - Unknown DNA SEQ - LDS1 Wooderchak-Donahue et al. (2015) M - - - Case 109 1 Giada Tortora
+/+ 4 c.734A>G r.(?) p.(Glu245Gly) - Unknown Substitution g.101900300A>G - TGFBR1_000060 - De novo DNA SEQ - LDS1 Stheneur et al (2008) M - - - - 1 Giada Tortora
+/+ 4 c.759G>A r.(?) p.(Met253Ile) - Unknown Substitution g.101900325G>A - TGFBR1_000050 - Germline (inherited) DNA SEQ - LDS1 Singh et al (2006) M - - - - 3 Giada Tortora
+/+ 4 c.759G>A r.(?) p.(Met253Ile) - Unknown Substitution g.101900325G>A - TGFBR1_000051 - Germline (inherited) DNA SEQ - LDS1 Singh et al (2006) M - - - - 1 Giada Tortora
+/+ 4 c.759G>A r.(?) p.(Met253Ile) - Unknown Substitution g.101900325G>A - TGFBR1_000052 - Germline (inherited) DNA SEQ - LDS1 Singh et al (2006) F - - - - 1 Giada Tortora
+/+ 4 c.759G>A r.(?) p.(Met253Ile) - Unknown Substitution g.101900325G>A - TGFBR1_000063 - Germline (inherited) DNA SEQ - LDS1 Stheneur et al (2008) F - - - - 1 Giada Tortora
+/+ 4 c.759G>A r.(?) p.(Met253Ile) - Unknown Substitution g.101900325G>A - TGFBR1_000050 - Unknown DNA SEQ - LDS1 Felgentreff et al (2014) - - - - - 1 Giada Tortora
+/+ 4 c.759G>A r.(?) p.(Met253Ile) - Unknown Substitution g.101900325G>A - TGFBR1_000050 - Unknown DNA SEQ - LDS1 Beckmann et al. (2014) M - - - - 1 Giada Tortora
+/+ 4 c.781G>A r.(?) p.(Gly261Arg) - Unknown Substitution g.101900347G>A - TGFBR1_000033 - Unknown DNA SEQ - LDS1 - M - - - - 1 Giada Tortora
+/+ 4 c.789A>G r.(?) p.(Ile263Met) - Unknown Substitution g.101900355A>G - TGFBR1_000029 - Unknown DNA SEQ - LDS1 - M - - - - 1 Giada Tortora
+?/. 4 c.790G>A r.(?) p.(Ala264Thr) - Maternal (confirmed) Substitution g.101900356G>A - TGFBR1_000079 - Germline (inherited) DNA SEQ-NG - LDS1 - M - - - - 1 Alessandra Maugeri
+/+ 4 c.796G>T r.(?) p.(Asp266Tyr) - Unknown Substitution g.101900362G>T - TGFBR1_000073 - De novo DNA SEQ - LDS1 Yang et al (2012) F Asian (Korea) - - - 1 Giada Tortora
+/+ 4 c.797A>G r.(?) p.(Asp266Gly) - Unknown Substitution g.101900363A>G - TGFBR1_000009 - Unknown DNA SEQ - LDS1 - F - - - - 1 Giada Tortora
+/+ 4 c.799A>C r.(?) p.(Asn267His) - Unknown Substitution g.101900365A>C - TGFBR1_000048 - Unknown DNA SEQ - LDS1 Mátyás et al (2006) - - - - - 1 Giada Tortora
+/+ 4 c.821C>G r.(?) p.(Thr274Ser) - Unknown Substitution g.101904833C>G - TGFBR1_000069 - Unknown DNA SEQ - LDS1 Felgentreff et al (2014) F - - - - 1 Giada Tortora
+/+ 4 c.821C>G r.(?) p.(Thr274Ser) - Unknown Substitution g.101904833C>G - TGFBR1_000069 - Unknown DNA SEQ - LDS1 Felgentreff et al (2014) F - - - - 1 Giada Tortora
./. 5 c.844T>C r.(?) p.(Tyr282His) - Paternal (confirmed) Substitution g.101904856T>C - TGFBR1_000076 - Germline (inherited) DNA SEQ - LDS1 Poninska et al. (2016) F - - - Family TAAD026 3 Giada Tortora
./. 5 c.844T>C r.(?) p.(Tyr282His) - Unknown Substitution g.101904856T>C - TGFBR1_000076 - Unknown DNA SEQ - LDS1 Poninska et al. (2016) M - - - Father, Family TAAD026 1 Giada Tortora
./. 5 c.844T>C r.(?) p.(Tyr282His) - Maternal (confirmed) Substitution g.101904856T>C - TGFBR1_000076 - Germline (inherited) DNA SEQ - LDS1 Poninska et al. (2016) M - - - Son, family TAAD026 1 Giada Tortora
./. 5 c.848A>C r.(?) p.(His283Pro) - Paternal (inferred) Substitution g.101904860A>C - TGFBR1_000075 - Germline (inherited) DNA SEQ - LDS1 Braverman et al. (2016) F - - - Case 1. Familial TAAD: father 42y (died), 2 male paternal cousins at 31 and 32y(died). 1 Giada Tortora
+/+ 5 c.934G>A r.(?) p.(Gly312Ser) - Unknown Substitution g.101904946G>A - TGFBR1_000053 - Unknown DNA SEQ - LDS1 Singh et al (2006) M - - - - 1 Giada Tortora
+/+ 5 c.934G>A r.(?) p.(Gly312Ser) - Unknown Substitution g.101904946G>A - TGFBR1_000066 - Unknown DNA SEQ - LDS1 Tran-Fadulu et al (2009) F - - - - 2 Giada Tortora
+/+ 5 c.934G>A r.(?) p.(Gly312Ser) - Unknown Substitution g.101904946G>A - TGFBR1_000053 - Germline (inherited) DNA SEQ - LDS1 Tran-Fadulu et al (2009) M - - - - 1 Giada Tortora
./. 5 c.934G>A r.(?) p.(Gly312Ser) - Unknown Substitution g.101904946G>A - TGFBR1_000053 - Unknown DNA SEQ - LDS1 Luo at al. (2016) F - - - Patient number 371. Family history of tall stature and cardiac death at 63y in her mother 1 Giada Tortora
./. 5 c.934G>A r.(?) p.(Gly312Ser) - Maternal (inferred) Substitution g.101904946G>A - TGFBR1_000053 - Germline (inherited) DNA SEQ - LDS1 Teixidó-Tura et al (2016) F - - - Family 5. Positive family history 11 Giada Tortora
./. 5 c.934G>A r.(?) p.(Gly312Ser) - Maternal (inferred) Substitution g.101904946G>A - TGFBR1_000053 - Germline (inherited) DNA SEQ - LDS1 Teixidó-Tura et al (2016) M - 73y Dissection Family 5. Brother, II-2 1 Giada Tortora
./. 5 c.934G>A r.(?) p.(Gly312Ser) - Maternal (inferred) Substitution g.101904946G>A - TGFBR1_000053 - Germline (inherited) DNA SEQ - LDS1 Teixidó-Tura et al (2016) M - 73y Dissection Family 5. Brother, II-2 1 Giada Tortora
./. 5 c.934G>A r.(?) p.(Gly312Ser) - Maternal (confirmed) Substitution g.101904946G>A - TGFBR1_000053 - Germline (inherited) DNA SEQ - LDS1 Teixidó-Tura et al (2016) F - - - Family 5. Daughter, III-1 1 Giada Tortora
./. 5 c.934G>A r.(?) p.(Gly312Ser) - Maternal (inferred) Substitution g.101904946G>A - TGFBR1_000053 - Germline (inherited) DNA SEQ - LDS1 Teixidó-Tura et al (2016) F - - - Family 5. Cousin, II-6 1 Giada Tortora
./. 5 c.934G>A r.(?) p.(Gly312Ser) - Maternal (confirmed) Substitution g.101904946G>A - TGFBR1_000053 - Germline (inherited) DNA SEQ - LDS1 Teixidó-Tura et al (2016) M - - - Family 5. Cousin, III-2 1 Giada Tortora
./. 5 c.934G>A r.(?) p.(Gly312Ser) - Maternal (inferred) Substitution g.101904946G>A - TGFBR1_000053 - Germline (inherited) DNA SEQ - LDS1 Teixidó-Tura et al (2016) F - - - Family 5. Cousin, II-7 1 Giada Tortora
./. 5 c.934G>A r.(?) p.(Gly312Ser) - Maternal (confirmed) Substitution g.101904946G>A - TGFBR1_000053 - Germline (inherited) DNA SEQ - LDS1 Teixidó-Tura et al (2016) F - - - Family 5. Cousin, III-3 1 Giada Tortora
./. 5 c.934G>A r.(?) p.(Gly312Ser) - Maternal (inferred) Substitution g.101904946G>A - TGFBR1_000053 - Germline (inherited) DNA SEQ - LDS1 Teixidó-Tura et al (2016) M - - - Family 5. Cousin, III-4 1 Giada Tortora
./. 5 c.934G>A r.(?) p.(Gly312Ser) - Paternal (confirmed) Substitution g.101904946G>A - TGFBR1_000053 - Germline (inherited) DNA SEQ - LDS1 Teixidó-Tura et al (2016) M - - - Family 5. Cousin, IV-1 1 Giada Tortora
./. 5 c.934G>A r.(?) p.(Gly312Ser) - Maternal (inferred) Substitution g.101904946G>A - TGFBR1_000053 - Germline (inherited) DNA SEQ - LDS1 Teixidó-Tura et al (2016) F - - - Family 5. Cousin II-9 1 Giada Tortora
./. 5 c.934G>A r.(?) p.(Gly312Ser) - Maternal (confirmed) Substitution g.101904946G>A - TGFBR1_000053 - Germline (inherited) DNA SEQ - LDS1 Teixidó-Tura et al (2016) M - - - Family 5. Cousin, III-5 1 Giada Tortora
+/+ 5 c.944A>G r.(?) p.(His315Arg) - Unknown Substitution g.101904956A>G - TGFBR1_000065 - Unknown DNA SEQ - LDS1 Tran-Fadulu et al (2009) M - - - - 1 Giada Tortora
+/+ 6 c.998A>G r.(?) p.(Asp333Gly) - Unknown Substitution g.101907038A>G - TGFBR1_000024 - De novo DNA SEQ - LDS1 - F - - - - 1 Giada Tortora
+/+ 6 c.1003A>C r.(?) p.(Lys335Gln) - Unknown Substitution g.101907043A>C - TGFBR1_000018 - Unknown DNA SEQ - LDS1 - F - - - - 1 Giada Tortora
+/+ 6 c.1003A>C r.(?) p.(Lys335Gln) - Unknown Substitution g.101907043A>C - TGFBR1_000062 - De novo DNA SEQ - LDS1 Stheneur et al (2008) F - - - - 1 Giada Tortora
+/+ 6 c.1003A>C r.(?) p.(Lys335Gln) - Unknown Substitution g.101907043A>C - TGFBR1_000067 - Unknown DNA SEQ - LDS1 Eckman et al (2009) M - - - - 1 Giada Tortora
+/+ 6 c.1003A>C r.(?) p.(Lys335Gln) - Unknown Substitution g.101907043A>C - TGFBR1_000018 - De novo DNA SEQ - LDS1 Sousa et al (2011) F - - - - 1 Giada Tortora
+/+ 6 c.1013A>G r.(?) p.(Asn338Ser) - Unknown Substitution g.101907053A>G - TGFBR1_000004 - De novo DNA SEQ - LDS1 - M - - - - 1 Giada Tortora
+/+ 6 c.1051G>C r.(?) p.(Asp351His) - Unknown Substitution g.101907091G>C - TGFBR1_000058 - De novo DNA SEQ - LDS1 Aalberts et al (2008) M - - - - 1 Giada Tortora
+/+ 6 c.1051G>T r.(?) p.(Asp351Tyr) - Unknown Substitution g.101907091G>T - TGFBR1_000027 - De novo DNA SEQ - LDS1 - F - - - - 1 Giada Tortora
+/+ 6 c.1052A>G r.(?) p.(Asp351Gly) - Unknown Substitution g.101907092A>G - TGFBR1_000072 - De novo DNA SEQ - LDS1 Drera et al (2009) M - - - - 1 Giada Tortora
+/+ 6 c.1058G>T r.(?) p.(Gly353Val) - Unknown Substitution g.101907098G>T - TGFBR1_000022 - De novo DNA SEQ - LDS1 - M - - - - 1 Giada Tortora
+/+ 6 c.1058G>T r.(?) p.(Gly353Val) - Unknown Substitution g.101907098G>T - TGFBR1_000022 - De novo DNA SEQ - LDS1 - M - - - - 1 Giada Tortora
+/+ 6 c.1061T>C r.(?) p.(Leu354Pro) - Unknown Substitution g.101907101T>C - TGFBR1_000038 - De novo DNA SEQ - LDS1 - M - - - - 1 Giada Tortora
+/+ 6 c.1121G>A r.(?) p.(Gly374Glu) - Unknown Substitution g.101907161G>A - TGFBR1_000039 - De novo DNA SEQ - LDS1 - F - - - - 1 Giada Tortora
+/+ 6 c.1124C>T r.(?) p.(Thr375Ile) - Unknown Substitution g.101907164C>T - TGFBR1_000074 - De novo DNA SEQ - LDS1 Yang et al (2012) M Asian (Korea) - - - 1 Giada Tortora
+/+ 7 c.1135A>G r.(?) p.(Met379Val) - Unknown Substitution g.101908771A>G - TGFBR1_000054 - Unknown DNA SEQ - LDS1 Sakai et al (2006) F Asian (Japanese) - - - 1 Giada Tortora
+?/. 7 c.1255+2T>C r. 1131_1255del p.[Tyr378Asnfs*3, 0] - Maternal (confirmed) Substitution g.101908893T>C - TGFBR1_000080 - Germline (inherited) DNA, RNA SEQ-NG, RT-PCR - LDS1 - M - - - - 1 Alessandra Maugeri
+/+ 9 c.1433A>G r.(?) p.(Asn478Ser) - Unknown Substitution g.101911508A>G - TGFBR1_000019 - Germline (inherited) DNA SEQ - LDS1 - M - - - - 3 Giada Tortora
+/+ 9 c.1433A>G r.(?) p.(Asn478Ser) - Paternal (inferred) Substitution g.101911508A>G - TGFBR1_000020 - Unknown DNA SEQ - LDS1 - M - - - - 1 Giada Tortora
+/+ 9 c.1433A>G r.(?) p.(Asn478Ser) - Paternal (inferred) Substitution g.101911508A>G - TGFBR1_000021 - Unknown DNA SEQ - LDS1 - F - - - - 1 Giada Tortora
+/+ 9 c.1433A>G r.(?) p.(Asn478Ser) - Unknown Substitution g.101911508A>G - TGFBR1_000019 - Unknown DNA SEQ - LDS1 - M - - - - 1 Giada Tortora
+/+ 9 c.1457T>C r.(?) p.(Leu486Ser) - Unknown Substitution g.101911532T>C - TGFBR1_000064 - Germline (inherited) DNA SEQ - LDS1 Tran-Fadulu et al (2009) M - - dissection type A (young age) - 1 Giada Tortora
+/+ 9 c.1457T>G r.(?) p.(Leu486Trp) - Unknown Substitution g.101911532T>G - TGFBR1_000017 - Unknown DNA SEQ - LDS1 - M - - - - 1 Giada Tortora
+/+ 9 c.1459C>T r.(?) p.(Arg487Trp) - Unknown Substitution g.101911534C>T - TGFBR1_000003 - Unknown DNA SEQ - LDS1 - M - - - - 1 Giada Tortora
+/+ 9 c.1459C>T r.(?) p.(Arg487Trp) - Unknown Substitution g.101911534C>T - TGFBR1_000016 - Unknown DNA SEQ - LDS1 - F - - - - 1 Giada Tortora
+/+ 9 c.1459C>T r.(?) p.(Arg487Trp) - Unknown Substitution g.101911534C>T - TGFBR1_000023 - Unknown DNA SEQ - LDS1 - F - - - - 1 Giada Tortora
+/+ 9 c.1459C>T r.(?) p.(Arg487Trp) - Unknown Substitution g.101911534C>T - TGFBR1_000034 - De novo DNA SEQ - LDS1 - M - - - - 1 Giada Tortora
+/+ 9 c.1459C>T r.(?) p.(Arg487Trp) - Unknown Substitution g.101911534C>T - TGFBR1_000041 - Germline (inherited) DNA SEQ - LDS1 - M - - - - 1 Giada Tortora
+/+ 9 c.1459C>T r.(?) p.(Arg487Trp) - Unknown Substitution g.101911534C>T - TGFBR1_000043 - Germline (inherited) DNA SEQ - LDS1 - M - - - - 1 Giada Tortora
+/+ 9 c.1459C>T r.(?) p.(Arg487Trp) - Paternal (confirmed) Substitution g.101911534C>T - TGFBR1_000044 - Germline (inherited) DNA SEQ - LDS1 - M - - - - 1 Giada Tortora
+/+ 9 c.1459C>T r.(?) p.(Arg487Trp) - Unknown Substitution g.101911534C>T - TGFBR1_000003 - Unknown DNA SEQ - LDS1 Tran-Fadulu et al (2009) - - - - - 1 Giada Tortora
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